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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.25557/2073-7998.2025.12.140-142</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-3364</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>КРАТКИЕ СООБЩЕНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>BRIEF REPORT</subject></subj-group></article-categories><title-group><article-title>Лизосомные болезни накопления и нейродегенеративные заболевания: молекулярные основы коморбидности.</article-title><trans-title-group xml:lang="en"><trans-title>Lysosomal storage diseases and neurodegenerative diseases: the molecular basis of comorbidity.</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Пчелина</surname><given-names>С. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Pchelina</surname><given-names>S. N.</given-names></name></name-alternatives><email xlink:type="simple">sopchelina@hotmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Петербургский институт ядерной физики им. Б.П. Константинова Национального исследовательского центра «Курчатовский институт»; Первый Санкт-Петербургский государственный медицинский университет им. акад. И. П. Павлова&#13;
188300, г. Гатчина, мкр. Орлова роща, д. 1&#13;
197022, г. Санкт-Петербург, ул. Льва Толстого, д. 6/8</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Center «Kurchatov Institute»; Pavlov First Saint-Petersburg State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2025</year></pub-date><pub-date pub-type="epub"><day>31</day><month>01</month><year>2026</year></pub-date><volume>24</volume><issue>12</issue><fpage>140</fpage><lpage>142</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Пчелина С.Н., 2026</copyright-statement><copyright-year>2026</copyright-year><copyright-holder xml:lang="ru">Пчелина С.Н.</copyright-holder><copyright-holder xml:lang="en">Pchelina S.N.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.medgen-journal.ru/jour/article/view/3364">https://www.medgen-journal.ru/jour/article/view/3364</self-uri><abstract><p>В статье представлены данные о молекулярных основах коморбидности редкого наследственного заболевания болезни Гоше с частой нейродегенеративной патологией, болезнью Паркинсона. Обсуждается, что данная ассоциация может оказаться шире и распространяться на другие гены лизосомных болезней накопления. Обсуждаются подходы к лечению болезни Паркинсона, открывающиеся в результате полученных за последние годы собственных данных.</p></abstract><trans-abstract xml:lang="en"><p>This article presents data on the molecular basis of the comorbidity of Gaucher disease, a rare hereditary disorder, with Parkinson’s disease, a common neurodegenerative condition. It is discussed that this association may be broader and extend to other genes of lysosomal storage diseases. Approaches to the treatment of Parkinson’s disease are discussed, that are uncovered as a result of our own data obtained in recent years.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>лизосомные болезни накопления</kwd><kwd>болезнь Паркинсона</kwd><kwd>геномное секвенирование</kwd><kwd>фармакологические шапероны</kwd></kwd-group><kwd-group xml:lang="en"><kwd>lysosomal storage diseases</kwd><kwd>Parkinson’s disease</kwd><kwd>genomic sequencing</kwd><kwd>pharmacological chaperones</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Работа поддержана грантом РНФ № 24-15-00177.</funding-statement></funding-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Захарова Е.Ю., Байдакова Г.В., Михайлова С.В., и др. Лизосомные болезни накопления. «ГЭОТАР-Медиа», 2021.424с.ISBN 978-5-9704-6321-5. 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